A family from Nottingham have finally received the correct diagnosis for a dangerous inherited heart condition - after more than three decades of uncertainty - thanks to advances in genetic testing.

Doctors had long believed the family was affected by Marfan syndrome, a condition that can weaken the body’s connective tissues and lead to serious heart problems. But new research has revealed the real cause: a rarer condition called Loeys-Dietz syndrome type 4.

Despite decades of testing, doctors couldn’t find the genetic cause - until researchers revisited the family’s DNA using more advanced techniques. In 2015 the family took part in the UK 100,000 Genomes Project - a groundbreaking UK government initiative which ran from 2012 to 2018 that sequenced 100,000 whole genomes from NHS patients with rare diseases and cancers. 

Genetic testing technology and knowledge at the time did not provide a diagnosis for the family, but since their genetic data was securely stored within the National Genomics Research Library, advances in both technology and our understanding of genetics enabled their genetic data to be revisited which led to doctors discovering a tiny missing piece of genetic material in a gene called TGFB2.

This small deletion had been missed by earlier tests, because the size was difficult to detect using standard methods at the time. That missing fragment turned out to be the key, confirming the family actually had Loeys-Dietz syndrome type 4, not Marfan syndrome.

Dr Abhijit Dixit, Consultant Clinical Geneticist at Nottingham University Hospital, who co-authored a recent paper on the family's diagnosis published in the American Journal of Medical Genetics, said "Reanalysis of their genetic data identified five family members as carriers of the gene change, which means they will now receive regular heart scans. For eight other relatives, we were able to reassure them that they have not inherited the condition and no longer need ongoing monitoring".

Speaking on behalf of the family involved, Jilly from Nottingham said: “Getting this diagnosis has been a massive bonus to the family because it puts an end to the uncertainty. Before this the whole family was under surveillance and monitoring, but now we can identify which members of our family are affected, which is a huge relief, after so long not knowing". Read the full story here.

NICE has recommended zanidatamab, also known as Ziihera, in final draft guidance for adults with HER2-positive advanced biliary tract cancer - a group of cancers affecting parts of the body that store and transport bile, including the bile ducts and gallbladder, who have already received at least one treatment.

Biliary tract cancer is often diagnosed late, when it can no longer be removed by surgery. Fewer than one in three people in England survive for a year after diagnosis, and until now, treatment options for patients whose cancer had progressed were limited.

Around 65 people a year in England are expected to be eligible for zanidatamab, which is given by an intravenous infusion once every two weeks. It works by recognising and attaching to a protein called HER2 found on the surface of cancer cells and slows or stops the cancer cells from growing.

Clinical trial data showed that people treated with zanidatamab lived for an average of 18 months after taking the drug, significantly longer than those receiving standard chemotherapy, which was around six months. Find out more here.

The Child Health East of England Research Initiative (CHEERI) has published best practice guidelines for paediatricians to conduct genomic investigations.

The guidelines were supported by a survey that we helped CHEERI develop and distribute in 2023, which explored current practices in the investigation of early developmental impairment (EDI, also known as global developmental delay GDD).

Neurodevelopmental delay is a common clinical presentation to paediatricians. For some children, there may be an immediately recognisable likely cause such as a severe perinatal infection or hypoxia. For others, the cause may not be obvious, leaving open questions of recurrence risk, developmental prognosis, expected medical and mental health needs and optimal management. 

Although some children will remain undiagnosed, many will have an underlying genetic diagnosis. In an article published in the BMJ, the authors highlight recent advances in the investigation of children with developmental delay, and advocate performing next-generation sequencing-based tests as a first-line investigation, alongside basic biochemical and metabolic tests, with an aim for greater equity of testing and more rapid diagnosis.

Clinical healthcare professionals keen to develop their knowledge of genomics are invited to apply for a popular introductory genomics counselling course, with the opportunity to extend their studies to a Postgraduate Certificate (PGCert) in Genomics. The course is delivered online through blended learning by the University of the West of England (UWE Bristol).

To support healthcare professionals in developing their understanding of genomics and in better supporting patients, UWE Bristol has developed this online course in collaboration with Macmillan Cancer Support, the British Heart Foundation, Genomics England, a range of NHS genomics specialists, and the NHS England Genomics Education Programme (GEP). Find out more here.

To celebrate 20 years of the National Institute for Health and Care Research (NIHR), teams from the East of England will host a Patient and Public Involvement showcase on Tuesday 16 June, 10.30am - 3.30pm at the Cambridge Biomedical Campus,

This free event is a celebration of Patient and Public Involvement (PPI) in health research and the role it has to play, and is open to patients, carers, members of the public, researchers, students and anyone who would like to understand how research can be shaped by the publics voice. Find out more and register here.

University of York

This evidence-based CPD course is presented by Jodie Coulson, lecturer in prescribing and Medicines Optimisation at the University of York and author of Genomics for nurses: An introduction. The programme is suitable for any registered nurse, practicing in any setting, who wishes to extend their knowledge of genomics in relation to the nursing role, to enhance their practice and to better support student nurses to learn about genomics. Find out more and book your place here.

Online and in-person

Educators of nurses, midwives, pharmacists and Allied Health Professionals (AHPs) are invited to join a 3‑day intensive “Genomics for Educators” course, delivered by education specialists, clinical geneticists, and nurse, midwife and pharmacist specialists from Central and South Genomics. 

The course will take place over 3 days - in-person on 18 and 19 August at Birmingham Women's & Children's NHS Foundation Trust and online on 1 September and the course fee is £150+booking fees per person. Find out more and register your place here.

The NHS 10 Year Health Plan sets out an ambition for AI to be integrated across clinical pathways, with wider use of generative AI across trusts. 

The AI in Healthcare Conference 2026 will examine how AI is being implemented across the NHS focusing on what it takes to introduce tools safely into clinical workflows, manage governance and procurement, and responsible adoption across trusts. Delegates will gain insights into how to navigate common barriers including workforce challenges, data access, and confidence, and what responsible and effective use of AI looks like in NHS settings.

Find out more and book your place here. You can use the discount code 15OFF when booking.